ABCG5 gene related symptoms and diseases

All the information presented here about the ABCG5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ABCG5 gene

Symptoms // Phenotype % Cases
Coronary artery atherosclerosis Very Common - Between 80% and 100% cases
Hypercholesterolemia Very Common - Between 80% and 100% cases
Arthralgia Very Common - Between 80% and 100% cases
Premature coronary artery atherosclerosis Very Common - Between 80% and 100% cases
Xanthomatosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ABCG5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Short stature
  • Angina pectoris
  • Left ventricular failure
  • Precocious atherosclerosis
  • Heart murmur
  • Peripheral arterial stenosis
  • Optic neuropathy
  • Hyperlipidemia

And 48 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to ABCG5 gene

Here you will find a list of rare diseases related to the ABCG5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SITOSTEROLEMIA


Alternate names

SITOSTEROLEMIA Is also known as stsl, phytosterolemia

Description

Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.

Most common symptoms of SITOSTEROLEMIA

  • Short stature
  • Pain
  • Anemia
  • Splenomegaly
  • Abdominal pain


More info about SITOSTEROLEMIA

SOURCES: MESH ORPHANET OMIM

HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA


Alternate names

HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA Is also known as hofh

Most common symptoms of HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

  • Hypertension
  • Dyspnea
  • Arthralgia
  • Hepatic steatosis
  • Sudden cardiac death


More info about HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

SOURCES: ORPHANET


Potential gene panels for ABCG5 gene

Sitosterolemia, ABCG5, Sequencing Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University

This panel specifically test the ABCG5 gene.

More info about this panel

Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS) that also includes the following genes: RHAG SLC2A1 SPTA1 SPTB XK ATP11C ABCG5 ABCG8 COL4A1 PIEZO1

More info about this panel

Hemolytic Anemia Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ATP11C ABCG5 ABCG8

More info about this panel

ABCG5 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the ABCG5 gene.

More info about this panel

ABCG5 Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the ABCG5 gene.

More info about this panel

Hemolytic Anemia Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Deletion/Duplication Panel that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ABCG5 ABCG8 LPIN2

More info about this panel

Red Blood Cell Membrane Disorders Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Red Blood Cell Membrane Disorders Deletion/Duplication Panel that also includes the following genes: RHAG SLC2A1 SPTA1 SPTB XK ABCG5 ABCG8 PIEZO1 EPB41 EPB42

More info about this panel

Liver Diseases Deletion/duplication panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Deletion/duplication panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1 ABCG5 ABCG8 NPC2

More info about this panel

Liver Diseases Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Panel by next-generation sequencing (NGS) that also includes the following genes: SCP2 SLC10A1 SLC10A2 SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1

More info about this panel

Thrombocytopenia Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Thrombocytopenia Sequencing Panel that also includes the following genes: CFB SRC TERC TERT THBD VWF WAS C3 ADAMTS13 ABCG5

More info about this panel

Thrombocytopenia Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Thrombocytopenia Deletion/Duplication Panel that also includes the following genes: CFB RUNX1 SRC TERC TERT THBD VWF WAS C3 ADAMTS13

More info about this panel

ABCG5 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the ABCG5 gene.

More info about this panel

Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis that also includes the following genes: SAR1B SLCO1B1 ABCG5 ABCG8 LMF1 SCARB1 APOA5 LDLRAP1 CETP PCSK9

More info about this panel

ABCG5. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ABCG5 gene.

More info about this panel

Hypercholesterolemia, familial (NGS panel for 15 genes) Panel

Portugal.

By CGC Genetics Hypercholesterolemia, familial (NGS panel for 15 genes) that also includes the following genes: ABCG5 ABCG8 APTX PPP1R17 LDLRAP1 PCSK9 EPHX2 GHR ITIH4 LDLR

More info about this panel

Sitosterolemia Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Sitosterolemia that also includes the following genes: ABCG5 ABCG8

More info about this panel

Bleeding Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Bleeding Disorders Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 TBXA2R TBXAS1 VWF WAS ADAMTS13 ABCG5 ABCG8 GP6 HPS3

More info about this panel

Sitosterolemia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Sitosterolemia Sequencing Panel with CNV Detection that also includes the following genes: ABCG5 ABCG8

More info about this panel

Comprehensive Cardiology Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF

More info about this panel

Sitosterolemia via ABCG5 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ABCG5 gene.

More info about this panel

Thrombocytopenia Sequencing Panel with CNV Detection - Expanded Panel

United States.

By PreventionGenetics PreventionGenetics Thrombocytopenia Sequencing Panel with CNV Detection - Expanded that also includes the following genes: RUNX1 WAS ADAMTS13 ABCG5 ABCG8 TUBB1 ACTN1 CD36 MASTL CYCS

More info about this panel

NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies Panel

Spain.

By BLOODGENETICS BLOODGENETICS NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies that also includes the following genes: RHAG BPGM SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK ABCG5 ABCG8

More info about this panel

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Dyslipidemias / Early atherosclerosis Panel

Spain.

By Health in Code Dyslipidemias / Early atherosclerosis that also includes the following genes: RYR1 SAR1B BLK SLCO1B1 SLC22A8 SLC2A2 HNF1A HNF1B KLF11 WFS1

More info about this panel

Familialhypercholesterolemia Extended Panel Panel

Spain.

By Health in Code Familialhypercholesterolemia Extended Panel that also includes the following genes: RYR1 SLCO1B1 SLC22A8 ABCG5 ABCG8 LDLRAP1 CH25H PCSK9 CPT2 COQ2

More info about this panel

Familial Hypercholesterolaemia Genetic Screen Panel

Australia.

By Cardiovascular Genetics Laboratory PathWest Laboratory Medicine WA Familial Hypercholesterolaemia Genetic Screen that also includes the following genes: ABCG5 ABCG8 LDLRAP1 PCSK9 STAP1 APOE LDLR LIPA

More info about this panel

SITOSTEROLEMIA Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases SITOSTEROLEMIA that also includes the following genes: ABCG5 ABCG8

More info about this panel

Neonatal and Adult Cholestasis: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neonatal and Adult Cholestasis: Sequencing Panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UGT1A1 VPS33B ABCG5 ABCG8 NPC2

More info about this panel

Amyotrophic Lateral Sclerosis NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Amyotrophic Lateral Sclerosis NGS Panel that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP ABCG5 ABHD12 FIG4 OPTN

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

ABCG5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ABCG5 gene.

More info about this panel

Thrombocytopenia Panel Panel

Finland.

By Blueprint Genetics Thrombocytopenia Panel that also includes the following genes: RUNX1 SRC THBD WAS WIPF1 ADAMTS13 ABCG5 ABCG8 TUBB1 ACTN1

More info about this panel

Bleeding Disorder/Coagulopathy Panel Panel

Finland.

By Blueprint Genetics Bleeding Disorder/Coagulopathy Panel that also includes the following genes: RUNX1 SRC TBXA2R THBD VWF WAS ADAMTS13 ABCG5 ABCG8 HPS3

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Hyperlipidemia Panel Panel

Finland.

By Blueprint Genetics Hyperlipidemia Panel that also includes the following genes: ABCG5 ABCG8 LMF1 APOA5 LDLRAP1 CREB3L3 PCSK9 GPIHBP1 ALMS1 APOC2

More info about this panel

Sitosterolemia Panel

Spain.

By Bioarray

This panel specifically test the ABCG5 gene.

More info about this panel

Sitosterolemia NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Sitosterolemia NGS and Deletion/Duplication Panel that also includes the following genes: ABCG5 ABCG8

More info about this panel

ABCG5 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the ABCG5 gene.

More info about this panel

Sitosterolemia Panel

Canada.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute Sitosterolemia that also includes the following genes: ABCG5 ABCG8

More info about this panel

SITOSTEROLEMIA Panel

Spain.

By Laboratorio de Genetica Clinica SL SITOSTEROLEMIA that also includes the following genes: ABCG5 ABCG8

More info about this panel

Sitosterolemia , Sequencing ABCG5 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ABCG5 gene.

More info about this panel

Sitosterolemia , Panel Massive Sequencing (NGS) ABCG5, ABCG8 Genes Panel

Spain.

By Reference Laboratory Genetics Sitosterolemia , Panel Massive Sequencing (NGS) ABCG5, ABCG8 Genes that also includes the following genes: ABCG5 ABCG8

More info about this panel

Sitosterolemia: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Sitosterolemia: gene sequencing panel that also includes the following genes: ABCG5 ABCG8

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PPP3CA DCN PDE6B CSF2RB KANK2 SMPD1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more


Mendelian tool does not provide medical advice. It is intended for informational purposes only. It is not a substitute for professional medical advice, diagnosis or treatment. It does not diagnose, it produces a ranked list of suspected genes which provide assistance for rare hereditary disease cases. Patients should discuss their findings with their healthcare provider
This service is using Human Phenotype Ontology (Build #1700 - Oct 2017). Find out more at www.human-phenotype-ontology.org.

©2019 Mendelian | Terms & Privacy | Cookie Policy | API docs | contact@mendelian.co
| Cookie configuration.